Published in Blood Weekly, August 2nd, 2007
"Sixteen patients with Epo < 10 mU/mL were studied, 3 were related. Analyses included EPOR and JAK2 gene sequencing, quantitative PRV-1 RT-PCR, and erythroid colony assays. A novel sporadic EPOR 1453G -> A (Trp439Stop) mutation was detected. All familial cases, varied in phenotype, presented the EPOR 1414C -> G (Tyr426Stop) mutation," wrote S. Rives and colleagues.
The researchers concluded: "JAK2...
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